Canonical Allele Identifier: CA366710416

Gene: RNF216

Linked Data

• gnomAD v4: 7-5641186-A-G
• MyVariant Identifiers: chr7:g.5680817A>G (hg19) ; chr7:g.5641186A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5641186A>G , CM000669.2:g.5641186A>G	GRCh38
NC_000007.13:g.5680817A>G , CM000669.1:g.5680817A>G	GRCh37
NC_000007.12:g.5647343A>G	NCBI36
NG_029374.1:g.145545T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389902.8:c.2350T>C MANE Select	ENSP00000374552.3:p.Cys784Arg
ENST00000389900.8:c.*1467T>C	ENSP00000374550.4:n.*1467T>C
ENST00000389902.7:c.2350T>C	ENSP00000374552.3:p.Cys784Arg
ENST00000425013.6:c.2179T>C	ENSP00000404602.2:p.Cys727Arg
ENST00000469375.1:n.567T>C
NM_207111.3:c.2350T>C	NP_996994.1:p.Cys784Arg
NM_207116.2:c.2179T>C	NP_996999.1:p.Cys727Arg
XM_005249785.2:c.2350T>C	XP_005249842.1:p.Cys784Arg
XM_006715748.1:c.1045T>C	XP_006715811.1:p.Cys349Arg
XM_011515434.1:c.2350T>C	XP_011513736.1:p.Cys784Arg
XM_011515436.1:c.1045T>C	XP_011513738.1:p.Cys349Arg
XM_011515436.2:c.1045T>C	XP_011513738.1:p.Cys349Arg
XM_017012363.2:c.2179T>C	XP_016867852.1:p.Cys727Arg
XM_024446805.1:c.2350T>C	XP_024302573.1:p.Cys784Arg
XM_024446806.1:c.1045T>C	XP_024302574.1:p.Cys349Arg
XM_024446807.1:c.1045T>C	XP_024302575.1:p.Cys349Arg
NM_001377156.1:c.2179T>C	NP_001364085.1:p.Cys727Arg
NM_207111.4:c.2350T>C MANE Select	NP_996994.1:p.Cys784Arg
NM_207116.3:c.2179T>C	NP_996999.1:p.Cys727Arg